Linked Data
ClinVar Variation Id:
330444
dbSNP Id:
rs200201955
ExAC:
19:7122796 A / C
gnomAD v2:
19-7122796-A-C
gnomAD v3:
19-7122785-A-C
gnomAD v4:
19-7122785-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7122785A>C , CM000681.2:g.7122785A>C | GRCh38 |
| NC_000019.9:g.7122796A>C , CM000681.1:g.7122796A>C | GRCh37 |
| NC_000019.8:g.7073796A>C | NCBI36 |
| NG_008852.2:g.176216T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.3370-12T>G MANE Select | ENSP00000303830.4:n.3370-12T>G | |
| ENST00000302850.9:c.3370-12T>G | ENSP00000303830.4:n.3370-12T>G | |
| ENST00000341500.9:c.3334-12T>G | ENSP00000342838.4:n.3334-12T>G | |
| ENST00000593970.1:n.216-12T>G | ||
| ENST00000601099.1:n.281-12T>G | ||
| NM_000208.2:c.3370-12T>G | NP_000199.2:n.3370-12T>G | |
| NM_000208.3:c.3370-12T>G | NP_000199.2:n.3370-12T>G | |
| NM_001079817.1:c.3334-12T>G | NP_001073285.1:n.3334-12T>G | |
| NM_001079817.2:c.3334-12T>G | NP_001073285.1:n.3334-12T>G | |
| XM_011527988.1:c.3445-12T>G | XP_011526290.1:n.3445-12T>G | |
| XM_011527989.1:c.3409-12T>G | XP_011526291.1:n.3409-12T>G | |
| XM_011527988.2:c.3367-12T>G | XP_011526290.2:n.3367-12T>G | |
| XM_011527989.3:c.3331-12T>G | XP_011526291.2:n.3331-12T>G | |
| NM_000208.4:c.3370-12T>G MANE Select | NP_000199.2:n.3370-12T>G | |
| NM_001079817.3:c.3334-12T>G | NP_001073285.1:n.3334-12T>G |